Clinical and research tests for C0004135 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Hereditary Cancer Panel Comprehensive Molecular Genetics Laboratory London Health Sciences Centre Canada	39	30	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Carrier Screening - Comprehensive Panel (145 Genes) Genesys Diagnostics Genesys Diagnostics, Inc. United States	185	145	D Deletion/duplication analysis I Microsatellite instability testing (MSI) X Mutation scanning of select exons T Targeted variant analysis
Common Hereditary Cancer Screening Panel PreventionGenetics, part of Exact Sciences United States	94	55	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Epilepsy Panel Centogene AG - the Rare Disease Company Germany	734	744	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Ataxia / Spastic Paraplegia Comprehensive Panel Centogene AG - the Rare Disease Company Germany	451	452	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Ataxia / Spastic Paraplegia Panel Centogene AG - the Rare Disease Company Germany	442	443	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Inherited Bone Marrow Failure Panel PreventionGenetics, part of Exact Sciences United States	267	186	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Congenital Diarrhea and Enteropathies Panel PreventionGenetics, part of Exact Sciences United States	241	157	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Primary Antibody Deficiency Panel PreventionGenetics, part of Exact Sciences United States	50	46	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Pediatric Cancer Panel PreventionGenetics, part of Exact Sciences United States	78	64	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Prostate Cancer Panel PreventionGenetics, part of Exact Sciences United States	20	16	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Breast Cancer - High / Moderate Risk Panel PreventionGenetics, part of Exact Sciences United States	13	14	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Hereditary Breast and Ovarian Cancer - Expanded and Lynch Syndrome Panel PreventionGenetics, part of Exact Sciences United States	29	33	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Hereditary Breast and Ovarian Cancer - High Risk and Lynch Syndrome Panel PreventionGenetics, part of Exact Sciences United States	19	17	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Hyper IgM Syndrome Panel PreventionGenetics, part of Exact Sciences United States	11	11	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Colorectal Cancer Panel PreventionGenetics, part of Exact Sciences United States	32	25	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Pancreatic Cancer Panel PreventionGenetics, part of Exact Sciences United States	27	18	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Ataxia Telangiectasia Syndrome via the ATM Gene PreventionGenetics, part of Exact Sciences United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Breast Cancer - Expanded Risk Panel PreventionGenetics, part of Exact Sciences United States	16	21	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Chromosomal Instability Syndromes Panel PreventionGenetics, part of Exact Sciences United States	10	8	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis

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IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.